High resolution physical mapping and identification of transcribed sequences in the Down syndrome region-2.
The identification and mapping of genes within the Down syndrome region is an important step toward a complete understanding of the pathogenesis of this disorder. The objective of the present work is to identify and map genes within the Down syndrome region-2. Chromosome 21 cosmid clones corresponding to "cosmid pockets" 121-124 have been first used as a starting material for generation of a single high resolution integrated cosmid/PAC contig with full EcoRI/SmaI restriction map. The integrated contig has been further anchored to genetic and physical maps through the positioning of 6 markers in the following order: ACTL5-D21S3-684G2T7-D21S71-D21S343-D21S 268. The entire contig covers 342 kb of the Down syndrome region-2 of chromosome 21. Subsequently, we have isolated, identified, and mapped four novel cDNAs which we have named N143, N144, CHD/333, and 90/3H1 and a potentially transcribed genomic sequence (E05133T7). Additionally, we have accurately located a previously described gene, the WRB gene, between the markers ACTL5-D21S268 within this Down Syndrome Region-2.
Vidal-Taboada
J M
JM
Human Genome Laboratory, Faculty of Medicine, University of Barcelona, Spain.
Bergoñón
S
S
Sánchez
M
M
López-Acedo
C
C
Groet
J
J
Nizetic
D
D
Egeo
A
A
Scartezzini
P
P
Katsanis
N
N
Fisher
E M
EM
Delabar
J M
JM
Oliva
R
R
D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D003360:Cosmids / Q000235:genetics; D018076:DNA, Complementary / Q000235:genetics; D015246:Deoxyribonuclease EcoRI / Q000378:metabolism; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D004314:Down Syndrome / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics; D008969:Molecular Sequence Data; D015183:Restriction Mapping; D014158:Transcription, Genetic / Q000235:genetics
D018076:DNA, Complementary; D005819:Genetic Markers; D015246:Deoxyribonuclease EcoRI; C025651:CCCGGG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific